Mutations in the γ2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa

Abstract

Junctional epidermolysis bullosa (JEB) is an autosomal recessive disorder characterized by blister formation within the dermal–epidermal basement membrane. Genes for the lamina lucida protein, kalinin/laminin 5, have been proposed as candidates for some forms of JEB, based on immunofluorescence analysis recognizing kalinin epitopes. We studied the cDNA of laminin γ2 chain for mutations in JEB using heteroduplex analysis. One patient showed a homozygous splice site mutation while another was heterozygous for a deletion–insertion, resulting in a premature termination codon in one allele. Our data implicate mutations in the laminin γ2 chain gene (LAMC2) in some forms of JEB.